Respiratory Diseases

Primary Ciliary Dyskinesia (PCD) is an inherited disorder that impairs cilia and causes mucus build up, infections, inflammation, and lung damage. Early and accurate diagnosis is critical for treatment and lung preservation but is often missed due to low awareness and the need for specialist expertise.

PCD diagnosis involves examining cilia with advanced microscopy. Dr Mathieu Bottier at Guy's and St Thomas' NHS Foundation Trust aims to develop Artificial Intelligence (AI) models to enhance the analysis of advanced microscopy images using computer vision.

Electron Microscopy (EM) reveals cilia structure. Dr Bottier has created and validated an AI tool to diagnose PCD from EM images, outperforming experts in challenging cases. He now plans to expand its use to other PCD specialist centres.

High-Speed Video-Microscopy (HSVM) assesses cilia movement. Dr Bottier will develop AI models to classify how cilia beat, using parameters like cilia speed and the distance travelled by the cilium tip, for objective and unbiased analysis.

Immuno-Fluorescence (IF) microscopy identifies key ciliary components. He aims to apply AI models to IF images to accelerate diagnosis and minimise bias.

In developing these AI tools, Dr Bottier aims to improve diagnostics by eliminating subjectivity in cilia analysis and accelerating results. This will enhance diagnostic accessibility, expand availability across centres, and provide a platform for studying cilia in clinical trials.